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Biochemical Genetics > MPS and Peroxisomal Disorders > Flashcards

MPS and Peroxisomal Disorders Flashcards

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Biology 101 flashcards
1
Q

Heparin sulphate abundant in ___

A

Brain

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2
Q

Keratin sulphate abundant in___

A

Skeleton

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3
Q

Derma tan sulphate abundant in___

A

Skeleton

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4
Q

MPS I called ____

A

Hurler Syndrome

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5
Q

MPS I Features

A 
Umbilical Hernia
Upper Resp Infections
Coarse Facial Features; Corneal Clouding
Dysostkosis Multiplex
Dev delay
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6
Q

MPS I Inheritance and Gene

A

AR, IDUA

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7
Q

MPS I, 2 forms of treatment

A

HSCT

ERT

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8
Q

MPS II called ____

A

Hunter Syndrome

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9
Q

MPS II Features

A 
Umbilical Hernia
Upper Resp Infections
Coarse facial features
No corneal clouding* 
Dysostkosis multiplex
Dev delay
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10
Q

MPS II inheritance and gene

A

AR; IDS

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11
Q

MPS II Treatment

A

HSCT

ERT

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12
Q

MPS III called ____

A

Sanfillippo Syndrome

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13
Q

MPS III Features

A

Behaviour changes
Progressive neurodegeneration
No organomegaly/clouding

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14
Q

MPS III inheritance and genes

A

AR, 4 genes

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15
Q

MPS IV called ____

A

Morquio Syndrome

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16
Q

MPS IV Features

A 
Skeletal findings- short stature 
Corneal clouding
Valvular heart disease 
Hearing impairment 
Resp. insufficiency
17
Q

MPS IV inheritance and genes

A

AR; GALNS

18
Q

MPS IV Treatment

A

ERT

Orthopedic

19
Q

MPS VI called ___

A

Marateuax-Lamy

20
Q

MPS VI Features

A 
Short stature
Progressive facial coarsening 
Corneal clouding
Cardioresp. disease
Organomegaly 
Dysostosis multiplex
21
Q

MPS VI inheritance and gene

A

AR; ARSB

22
Q

MPS VII called ____

A

Sly Syndrome

23
Q

MPS VII Features

A 
Dysostkosis Multiplex
Organomegaly
Coarse Features
Neurodegeneration
Corneal Clouding
24
Q

MPS VII inheritance and gene

A

AR; GUSB

25
Q

2 categories of Peroxisomal Disorders

A

Peroxisome Biogenesis Disorders

Isolated Enzyme Defects

26
Q

X-Linked Adrenoleukodystrophy inheritance and gene

A

XLR; ABCD1

27
Q

XL-ALD Features

A

Males initially normal
Develop behaviour, school problems, vision loss
Rapid neurodegeneration

28
Q

Forms of XL-ALD

A

Childhood Cerebral Leukodystrophy
Adrenomyeloneuropathy
Isolated Addisons

29
Q

XL-ALD Treatments

A

Corticosteroid Replacement
HSCT/BMT
Lorenzo’s oil

30
Q

Zellweger Syndrome Spectrum 3 major phenotypes

A

Zellweger Syndrome
Neonatal adrenoleukodystrophy
Infantile Refsum Disease

31
Q

Zellweger Syndrome inheritance and genes

A

AR, PEX

32
Q

Zellweger Syndrome Features

A 
Hypotonia
Seizures
FTT
Liver cysts and dysfunction
Chondrodysplasia Punctata
Dev. stagnation
Dysmorphism
33
Q

Zellweger Treatment

A

Supportive Only

Biochemical Genetics (9 decks)

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